{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kitzler TM"],"funding":["NCATS NIH HHS","NIDDK NIH HHS","Research Training in Pediatric Nephrology grant","Harvard Stem Cell Institute Kidney Inter-lab Fellowship Award at Harvard Medical School","KRESCENT - Kidney Foundation of Canada, the Canadian Society of Nephrology, and the Canadian Institutes of Health Research","National Institute of Health","NHGRI NIH HHS","Health Research Board","National Institutes of Health","NIH HHS","NIGMS NIH HHS","Health Research Board, Ireland"],"pagination":["1105-1115"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6745245"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["138(10)"],"pubmed_abstract":["Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33-34) has been implicated in vesicoureteral reflux (VUR), but mutations in COL4A1 have not been reported in CAKUT. We hypothesized that COL4A1 mutations cause CAKUT in humans. We performed whole exome sequencing (WES) in 550 families with CAKUT. As negative control cohorts we used WES sequencing data from patients with nephronophthisis (NPHP) with no genetic cause identified (n = 257) and with nephrotic syndrome (NS) due to monogenic causes (n = 100). We identified a not previously reported heterozygous missense variant in COL4A1 in three siblings with isolated VUR. When examining 549 familie"],"journal":["Human genetics"],"pubmed_title":["COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans."],"pmcid":["PMC6745245"],"funding_grant_id":["n/a","F-KP-0003-17-00","DK076683","T32-DK007726","R01 DK076683","S10 OD018521","UL1 TR001863","U54 HG006504","P30 DK079310","T32 GM007748","HPF-2016-1674","HPF-206-674","T32 DK007726","T32-GM007748","R01 DK088767","UM1 HG008900"],"pubmed_authors":["Kitzler TM","Lek M","Tasic V","Hildebrandt F","Kolvenbach CM","Connaughton DM","Shril S","Schneider R","Wu CW","Mann N","Majmundar AJ","Senguttuvan P","Mane S","Kohl S","Stajic N","Dai R","El Desoky SM","Valivullah Z","Kari JA","Lifton RP","Bogdanovic R","Nakayama M"],"additional_accession":[]},"is_claimable":false,"name":"COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.","description":"Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33-34) has been implicated in vesicoureteral reflux (VUR), but mutations in COL4A1 have not been reported in CAKUT. We hypothesized that COL4A1 mutations cause CAKUT in humans. We performed whole exome sequencing (WES) in 550 families with CAKUT. As negative control cohorts we used WES sequencing data from patients with nephronophthisis (NPHP) with no genetic cause identified (n = 257) and with nephrotic syndrome (NS) due to monogenic causes (n = 100). We identified a not previously reported heterozygous missense variant in COL4A1 in three siblings with isolated VUR. When examining 549 familie","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Oct","modification":"2026-05-02T20:28:46.503Z","creation":"2020-10-08T07:23:44Z"},"accession":"S-EPMC6745245","cross_references":{"pubmed":["31230195"],"doi":["10.1007/s00439-019-02042-4"]}}